C3280153[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678531	NM_014489.4(PGAP2):c.1A>G (p.Met1Val)	PGAP2 (M1V +2 more)	Single nucleotide variant (missense variant +5 more)	Hyperphosphatasia with intellectual disability syndrome 3	GLikely pathogenic
Select item 633511	NM_014489.4(PGAP2):c.380C>T (p.Ala127Val)	PGAP2 (A184V +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GLikely pathogenic